ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1118-7_1118-3del

dbSNP: rs1064796710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485202 SCV000573710 pathogenic not provided 2024-01-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002525956 SCV000940726 uncertain significance Developmental and epileptic encephalopathy, 54 2018-12-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with HNRNPU-related conditions. ClinVar contains an entry for this variant (Variation ID: 423944). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 5 of the HNRNPU gene. It does not directly change the encoded amino acid sequence of the HNRNPU protein, but it affects a nucleotide within the consensus splice site of the intron.

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